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Prenatal diagnosis of paternal duplication of 11p15.5→14.3: Its implication of Beckwith–Wiedemann syndrome

ObjectiveTo characterize a prenatally detected chromosomal aberration with molecular cytogenetic approaches and explore its relationship with Beckwith–Wiedemann syndrome (BWS). Case reportA 33-year-old woman, gravida 2, para 0, was referred to our prenatal clinic at 20+ weeks due to an abnormal amni... Full description

Journal Title: Taiwanese Journal of Obstetrics & Gynecology December 2016, Vol.55(6), pp.877-880
Main Author: Chen, Kuan Ju
Other Authors: Liu, Yu Mei , Li, Chien Hong , Chang, Yao Lung , Chang, Shuenn Dyh
Format: Electronic Article Electronic Article
Language: English
Subjects:
ID: ISSN: 1028-4559 ; DOI: 10.1016/j.tjog.2016.05.012
Link: http://dx.doi.org/10.1016/j.tjog.2016.05.012
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recordid: sciversesciencedirect_elsevierS1028-4559(16)30203-0
title: Prenatal diagnosis of paternal duplication of 11p15.5→14.3: Its implication of Beckwith–Wiedemann syndrome
format: Article
creator:
  • Chen, Kuan Ju
  • Liu, Yu Mei
  • Li, Chien Hong
  • Chang, Yao Lung
  • Chang, Shuenn Dyh
subjects:
  • Array Comparative Genomic Hybridization
  • Beckwith–Wiedemann Syndrome
  • Karyotyping
  • Short Tandem Repeat Marker
ispartof: Taiwanese Journal of Obstetrics & Gynecology, December 2016, Vol.55(6), pp.877-880
description: ObjectiveTo characterize a prenatally detected chromosomal aberration with molecular cytogenetic approaches and explore its relationship with Beckwith–Wiedemann syndrome (BWS). Case reportA 33-year-old woman, gravida 2, para 0, was referred to our prenatal clinic at 20+ weeks due to an abnormal amniocentesis karyotyping finding, which showed 46,XY,add(11)(q24.2)dn. The mother conceived through in vitro fertilization–intracytoplasmic sperm injection (IVF-ICSI), then embryo transfer. Fetal ultrasound revealed a left-sided congenital diaphragmatic hernia, overgrowth of the fetus, and an enlarged placenta. After genetic counseling and careful deliberation by the family, the pregnancy was subsequently terminated at 22+ weeks of gestation, delivering a fetus weighing 810 g (85th to 90th centile) and a placenta of 325 g (85th to 90th centile). To further delineate the nature of the rearrangement involved in the defective chromosome 11, repeat chromosomal analyses, including array comparative genomic hybridization (aCGH) test and quantitative fluorescence–polymerase chain reaction (QF-PCR) using short tandem repeat (STR) markers, were performed by sampling fetal tissue. The final result confirmed a diagnosis of 46,XY,del(11)(q24.3q25),dup(11)(p14.3p15.5). The abnormal chromosome 11 was inherited from the father and the duplicated segment involved 11p15.5, a critical imprinting region for BWS. ConclusionWe presented a prenatally detected chromosomal aberration characterized by paternal duplication of chromosome 11p15.5, which strongly related to the phenotypic manifestation of BWS.
language: eng
source:
identifier: ISSN: 1028-4559 ; DOI: 10.1016/j.tjog.2016.05.012
fulltext: fulltext
issn:
  • 10284559
  • 1028-4559
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titlePrenatal diagnosis of paternal duplication of 11p15.5→14.3: Its implication of Beckwith–Wiedemann syndrome
creatorChen, Kuan Ju ; Liu, Yu Mei ; Li, Chien Hong ; Chang, Yao Lung ; Chang, Shuenn Dyh
ispartofTaiwanese Journal of Obstetrics & Gynecology, December 2016, Vol.55(6), pp.877-880
identifierISSN: 1028-4559 ; DOI: 10.1016/j.tjog.2016.05.012
subjectArray Comparative Genomic Hybridization ; Beckwith–Wiedemann Syndrome ; Karyotyping ; Short Tandem Repeat Marker
descriptionObjectiveTo characterize a prenatally detected chromosomal aberration with molecular cytogenetic approaches and explore its relationship with Beckwith–Wiedemann syndrome (BWS). Case reportA 33-year-old woman, gravida 2, para 0, was referred to our prenatal clinic at 20+ weeks due to an abnormal amniocentesis karyotyping finding, which showed 46,XY,add(11)(q24.2)dn. The mother conceived through in vitro fertilization–intracytoplasmic sperm injection (IVF-ICSI), then embryo transfer. Fetal ultrasound revealed a left-sided congenital diaphragmatic hernia, overgrowth of the fetus, and an enlarged placenta. After genetic counseling and careful deliberation by the family, the pregnancy was subsequently terminated at 22+ weeks of gestation, delivering a fetus weighing 810 g (85th to 90th centile) and a placenta of 325 g (85th to 90th centile). To further delineate the nature of the rearrangement involved in the defective chromosome 11, repeat chromosomal analyses, including array comparative genomic hybridization (aCGH) test and quantitative fluorescence–polymerase chain reaction (QF-PCR) using short tandem repeat (STR) markers, were performed by sampling fetal tissue. The final result confirmed a diagnosis of 46,XY,del(11)(q24.3q25),dup(11)(p14.3p15.5). The abnormal chromosome 11 was inherited from the father and the duplicated segment involved 11p15.5, a critical imprinting region for BWS. ConclusionWe presented a prenatally detected chromosomal aberration characterized by paternal duplication of chromosome 11p15.5, which strongly related to the phenotypic manifestation of BWS.
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titlePrenatal diagnosis of paternal duplication of 11p15.5→14.3: Its implication of Beckwith–Wiedemann syndrome
descriptionObjectiveTo characterize a prenatally detected chromosomal aberration with molecular cytogenetic approaches and explore its relationship with Beckwith–Wiedemann syndrome (BWS). Case reportA 33-year-old woman, gravida 2, para 0, was referred to our prenatal clinic at 20+ weeks due to an abnormal amniocentesis karyotyping finding, which showed 46,XY,add(11)(q24.2)dn. The mother conceived through in vitro fertilization–intracytoplasmic sperm injection (IVF-ICSI), then embryo transfer. Fetal ultrasound revealed a left-sided congenital diaphragmatic hernia, overgrowth of the fetus, and an enlarged placenta. After genetic counseling and careful deliberation by the family, the pregnancy was subsequently terminated at 22+ weeks of gestation, delivering a fetus weighing 810 g (85th to 90th centile) and a placenta of 325 g (85th to 90th centile). To further delineate the nature of the rearrangement involved in the defective chromosome 11, repeat chromosomal analyses, including array comparative genomic hybridization (aCGH) test and quantitative fluorescence–polymerase chain reaction (QF-PCR) using short tandem repeat (STR) markers, were performed by sampling fetal tissue. The final result confirmed a diagnosis of 46,XY,del(11)(q24.3q25),dup(11)(p14.3p15.5). The abnormal chromosome 11 was inherited from the father and the duplicated segment involved 11p15.5, a critical imprinting region for BWS. ConclusionWe presented a prenatally detected chromosomal aberration characterized by paternal duplication of chromosome 11p15.5, which strongly related to the phenotypic manifestation of BWS.
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abstractObjectiveTo characterize a prenatally detected chromosomal aberration with molecular cytogenetic approaches and explore its relationship with Beckwith–Wiedemann syndrome (BWS). Case reportA 33-year-old woman, gravida 2, para 0, was referred to our prenatal clinic at 20+ weeks due to an abnormal amniocentesis karyotyping finding, which showed 46,XY,add(11)(q24.2)dn. The mother conceived through in vitro fertilization–intracytoplasmic sperm injection (IVF-ICSI), then embryo transfer. Fetal ultrasound revealed a left-sided congenital diaphragmatic hernia, overgrowth of the fetus, and an enlarged placenta. After genetic counseling and careful deliberation by the family, the pregnancy was subsequently terminated at 22+ weeks of gestation, delivering a fetus weighing 810 g (85th to 90th centile) and a placenta of 325 g (85th to 90th centile). To further delineate the nature of the rearrangement involved in the defective chromosome 11, repeat chromosomal analyses, including array comparative genomic hybridization (aCGH) test and quantitative fluorescence–polymerase chain reaction (QF-PCR) using short tandem repeat (STR) markers, were performed by sampling fetal tissue. The final result confirmed a diagnosis of 46,XY,del(11)(q24.3q25),dup(11)(p14.3p15.5). The abnormal chromosome 11 was inherited from the father and the duplicated segment involved 11p15.5, a critical imprinting region for BWS. ConclusionWe presented a prenatally detected chromosomal aberration characterized by paternal duplication of chromosome 11p15.5, which strongly related to the phenotypic manifestation of BWS.
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